This K24 application seeks support for Margaret M. McGovern, MD, PhD, an active, midcareer clinical investigator who has independent research support and is involved in patient oriented research (FOR). With this support, Dr. McGovern will enhance her internationally recognized program in FOR related to Types A and B Niemann Pick disease (NPD), increase her mentoring activities for young investigators, and increase her research skills. Her general goals related to her program in POR are to: 1) attain expertise in directing all phases of clinical trials including attaining technical expertise in good clinical practice (GCP), 2) build upon her previous training and experience in biochemical and molecular genetics to enhance her laboratory based research program in order to study the pulmonary and lipid abnormalities in NPD in greater depth, and 3) collect pilot data related to disease manifestations in NPD that will form the basis of future planned grant applications. Her specific goals are to:1) continue to study the natural history and disease manifestations of NPD Types A and B and carry out genotype phenotype correlations; 2) attain skill in laboratory methods to assess clinical efficacy of new therapies for NPD, including research to identify biomarkers of disease severity, and to study the pulmonary manifestations of the disease; and 3) carry out a clinical trial to assess the safety and efficacy of enzyme replacement therapy (ERT) for this disorder. Dr. McGovern has been extensively involved in mentoring of young investigators and the development of educational programs related to clinical research, including the establishment of a Master's degree program in Clinical Research. She will use the protected time provided by this award to: 1) expand her mentoring of young investigators interested in POR in genetic disorders including young faculty and fellows, and 2) devote more time to assisting Masters Degree candidates in selecting mentors and an educational program that best suits their needs.

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
Midcareer Investigator Award in Patient-Oriented Research (K24)
Project #
7K24RR021991-04
Application #
7545418
Study Section
Special Emphasis Panel (ZRG1-GTIE (01))
Program Officer
Wilde, David B
Project Start
2005-08-01
Project End
2010-05-31
Budget Start
2008-03-18
Budget End
2008-05-31
Support Year
4
Fiscal Year
2007
Total Cost
$117,289
Indirect Cost
Name
State University New York Stony Brook
Department
Pediatrics
Type
Schools of Medicine
DUNS #
804878247
City
Stony Brook
State
NY
Country
United States
Zip Code
11794
Wasserstein, Melissa; Godbold, James; McGovern, Margaret M (2013) Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B. J Inherit Metab Dis 36:123-7
McGovern, Margaret M; Lippa, Natalie; Bagiella, Emilia et al. (2013) Morbidity and mortality in type B Niemann-Pick disease. Genet Med 15:618-23
Thurberg, Beth L; Wasserstein, Melissa P; Schiano, Thomas et al. (2012) Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). Am J Surg Pathol 36:1234-46
Balwani, Manisha; Fuerstman, Laura; Desnick, Robert J et al. (2009) Use of complementary and alternative medicine by patients with lysosomal storage diseases. Genet Med 11:722-7
McGovern, Margaret M; Wasserstein, Melissa P; Giugliani, Roberto et al. (2008) A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics 122:e341-9
Wasserstein, Melissa P; Aron, Alan; Brodie, Scott E et al. (2006) Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. J Pediatr 149:554-9
McGovern, M M; Aron, A; Brodie, S E et al. (2006) Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials. Neurology 66:228-32
Simonaro, Calogera M; Park, Jae-Ho; Eliyahu, Efrat et al. (2006) Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease. Am J Hum Genet 78:865-70